Fig. 1

UPD for chromosome 6 in two patients. Medium coverage whole genome sequencing showed AOH regions of chromosome 6 for Case 1 (A) and Case 2 (C). Clinical exome sequencing showed the UPD chromosome 6 had both isodisomy and heterodisomy for Case 1 (B) and Case 2 (D) The AOH scatter plots and the Z-score distribution of chromosome 6 were shown. Z-scores were calculated for each 25 kb window for each sample across the batch. Marked AOH regions when at least four consecutive windows had Z-scores below − 2 or above 2